charged multivesicular body protein 2B
Última actualización 18 Aug 2020
Cumple con las directrices editoriales
- DescargarDescargar
- Compartir
- Language
- Discusión
- Versión en audio
- Agregar a fuentes preferidas en Google
El CHMP2B gene provides instructions for making a protein called charged multivesicular body protein 2B. This protein is active in the brain, where it appears to be essential for the survival of nerve cells (neurons).
Normal function
El CHMP2B gene provides instructions for making a protein called charged multivesicular body protein 2B. This protein is active in the brain, where it appears to be essential for the survival of nerve cells (neurons).
Charged multivesicular body protein 2B forms one part (subunit) of a group of proteins known as the ESCRT-III complex. This complex helps transport other proteins from the cell membrane to the interior of the cell, a process known as endocytosis. In particular, the ESCRT-III complex is involved in the endocytosis of proteins that need to be broken down (degraded) by the cell. The complex helps sort these proteins into structures called multivesicular bodies (MVBs), which deliver them to lysosomes. Lysosomes are compartments within cells that digest and recycle many different types of molecules.
Charged multivesicular body protein 2B is regulated by a segment at one end of the protein known as the C-terminal domain. This domain usually keeps the protein turned off (inactive). The inactive protein is unable to interact with other subunits of the ESCRT-III complex, which prevents the complex from forming when it is not needed. The C-terminal domain also plays an important role in disassembling the ESCRT-III complex through its interaction with a protein called vacuolar protein sorting 4 (Vps4).
Conditions referring to this gene or chromosome
Otros nombres
CHM2B_HUMAN
CHMP family, member 2B
CHMP2.5
chromatin modifying protein 2B
DMT1
hVps2-2
vacuolar protein sorting-associated protein 2-2
VPS2 homolog B
VPS2-2
VPS2B
Related patient information and medicines
Patient information leaflet
Alimentación saludable
¿Qué are the benefits of healthy eating. Alimentación saludable may help to prevenir certain serious diseases such as heart enfermedad , stroke and type 2 diabetes. It may also help to reduce your risk of developing some cancers. A 2019 review by the SACN (The Scientific Advisory Committee on Nutrition) determined that reducing your intake of saturated fats.
Patient information leaflet
Dieta en la enfermedad renal crónica
Chronic kidney disease (CKD) es un common long-term condition donde el riñones aren't working as well as they should be. There are some dietary choices that are recommended for people with early CKD. People with more advanced CKD may be advised to follow a special diet, usually with the support of a specialist dietician. It's important for.
Patient information leaflet
Linfoma no Hodgkin
The various types of linfoma no Hodgkin are divided into high-grade (fast-growing) y low-grade (slow-growing). What is non-Hodgkin's lymphoma. Non-. See also the leaflet on The Immune System for more information about the lymphatic system. Cánceres of all three are usually termed haematological cancers (or cancers of el blood) and are.
Patient information leaflet
Síndrome nefrótico
Nephrotic syndrome is a condition where the 'filters' in the kidney become 'leaky' and large amounts of protein leak from the blood into the urine. The main symptom is fluid retention (oedema) which is mainly due to the low protein level in the blood. Various diseases can cause nephrotic syndrome, some more serious than others. Treatment and.
Patient information leaflet
Recetas gratuitas o de costo reducido
Some people automatically get free prescriptions. Certain people can get an exemption certificate to obtain free prescriptions. Also, anyone needing regular prescriptions may save money by buying a Prescription Prepayment Certificate. Note : this leaflet only applies to Inglaterra because prescriptions are free to all in Northern Ireland, Scotland.
Patient information leaflet
Glomerulonefritis
Glomerulonefritis is the name given to a range of conditions that can affect the kidney, specifically the glomeruli of the kidney. The glomeruli become damaged, commonly because of a problem with the body's immune system. Many people with glomerulonephritis may not notice any symptoms initially. However, salt and excess fluid can build up in the.
Lecturas adicionales y referencias
- charged multivesicular body protein 2B; MedlinePlus, National Library of Medicine.
- Ferrari R, Kapogiannis D, Huey ED, Grafman J, Hardy J, Momeni P. Novel missense mutation in charged multivesicular body protein 2B in a patient with frontotemporal dementia. Alzheimer Dis Assoc Disord. 2010 Oct-Dec;24(4):397-401. doi: 10.1097/WAD.0b013e3181df20c7.
- Lee JA, Gao FB. ESCRT, autophagy, and frontotemporal dementia. BMB Rep. 2008 Dec 31;41(12):827-32. doi: 10.5483/bmbrep.2008.41.12.827.
- Momeni P, Rogaeva E, Van Deerlin V, Yuan W, Grafman J, Tierney M, Huey E, Bell J, Morris CM, Kalaria RN, van Rensburg SJ, Niehaus D, Potocnik F, Kawarai T, Salehi-Rad S, Sato C, St George-Hyslop P, Hardy J. Genetic variability in CHMP2B and frontotemporal dementia. Neurodegener Dis. 2006;3(3):129-33. doi: 10.1159/000094771.
- Skibinski G, Parkinson NJ, Brown JM, Chakrabarti L, Lloyd SL, Hummerich H, Nielsen JE, Hodges JR, Spillantini MG, Thusgaard T, Brandner S, Brun A, Rossor MN, Gade A, Johannsen P, Sorensen SA, Gydesen S, Fisher EM, Collinge J. Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. Nat Genet. 2005 Aug;37(8):806-8. doi: 10.1038/ng1609. Epub 2005 Jul 24.
- Urwin H, Authier A, Nielsen JE, Metcalf D, Powell C, Froud K, Malcolm DS, Holm I, Johannsen P, Brown J, Fisher EM, van der Zee J, Bruyland M; FReJA Consortium; Van Broeckhoven C, Collinge J, Brandner S, Futter C, Isaacs AM. Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations. Hum Mol Genet. 2010 Jun 1;19(11):2228-38. doi: 10.1093/hmg/ddq100. Epub 2010 Mar 10.
- Urwin H, Ghazi-Noori S, Collinge J, Isaacs A. The role of CHMP2B in frontotemporal dementia. Biochem Soc Trans. 2009 Feb;37(Pt 1):208-12. doi: 10.1042/BST0370208.
- van der Zee J, Urwin H, Engelborghs S, Bruyland M, Vandenberghe R, Dermaut B, De Pooter T, Peeters K, Santens P, De Deyn PP, Fisher EM, Collinge J, Isaacs AM, Van Broeckhoven C. CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro. Hum Mol Genet. 2008 Jan 15;17(2):313-22. doi: 10.1093/hmg/ddm309. Epub 2007 Oct 22.
Únete a la conversación
Comparte tus pensamientos o experiencias con otros en nuestro comunidades de pacientes.
Pregunta, comparte, conecta.
Navega por discusiones, haz preguntas y comparte experiencias en cientos de temas de salud.
Suscríbete al boletín de Patient
Tu dosis semanal de consejos de salud claros y confiables, escritos para ayudarte a sentirte informado, seguro y en control.
Al suscribirte aceptas nuestros Política de Privacidad. Puedes darte de baja en cualquier momento. Nunca vendemos tus datos.